Status:
COMPLETED
Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects
Lead Sponsor:
National Institute of Allergy and Infectious Diseases (NIAID)
Conditions:
Immunodeficiency
Eligibility:
All Genders
2-120 years
Brief Summary
Background: The immune system defends the body against disease. It has many different parts spread out in the body, including in the blood and skin. To learn more about it, researchers want to study...
Detailed Description
Immunological disorders predispose affected individuals to a myriad of complications, including infection, immune dysregulation with autoimmune disease and aberrant inflammatory responses, and maligna...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Aged greater than or equal to 2 years.
- Meets 1 of the following criteria:
- a. Patient with a suspected or known/molecularly defined but incompletely characterized immune disorder (as determined by a referring NIH study staff member) AND meeting at least one of the following:
- i. within 1 year of screening, abnormal immune function demonstrated by at least one laboratory test result outside the normal range
- ii. history of severe or atypical infection, immune dysregulation (defined as autoimmunity, lymphoproliferation, or HLH), or autoinflammatory symptoms (defined as episodic fever often associated with dermatitis, gastrointestinal symptoms, and arthropathy).
- b. Biological unaffected relative of an individual meeting criterion 2a but who does not meet criterion 2a himself/herself. Unaffected relatives may be mother, father, siblings, children, grandparents, aunts, uncles, or first cousins to the individual.
- Willing to allow storage of samples and data for future research.
- For patients, currently or previously enrolled on an NIH protocol that performs WES or WGS and that allows sharing of sequence data.
- For unaffected relatives, able to provide informed consent.
- EXCLUSION CRITERIA:
- Individuals meeting any of the following criteria will be excluded from study participation:
- History of secondary causes of immunodeficiency or dysregulation (e.g., HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
- Pregnancy.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Exclusion
Key Trial Info
Start Date :
November 12 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 27 2025
Estimated Enrollment :
19 Patients enrolled
Trial Details
Trial ID
NCT04408950
Start Date
November 12 2020
End Date
January 27 2025
Last Update
November 19 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892